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Canonical Allele Identifier: Get Identifier
Gene: EXT2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000379032.3:p.[Val187Pro;Ile190_Val192delinsMetCys;Asn194_Asn196delinsThrArg;Leu198_Leu210delinsHisCysAlaSerArgArgGlnHisLysArgTrpProSer;Arg212_Thr217delinsLeuGlyGlyIleGluVal]
CA916081632
ENST00000395673.7:c.558_561del